SIL1 and SARA2 mutations in Marinesco-Sjögren and chylomicron retention diseases. (Articolo in rivista)

Type
Label
  • SIL1 and SARA2 mutations in Marinesco-Sjögren and chylomicron retention diseases. (Articolo in rivista) (literal)
Anno
  • 2007-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1111/j.1399-0004.2007.00759.x (literal)
Alternative label
  • Annesi G; Aguglia U; Tarantino P; Annesi F; De Marco EV; Civitelli D; Torroni A; Quattrone A. (2007)
    SIL1 and SARA2 mutations in Marinesco-Sjögren and chylomicron retention diseases.
    in Clinical genetics
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Annesi G; Aguglia U; Tarantino P; Annesi F; De Marco EV; Civitelli D; Torroni A; Quattrone A. (literal)
Pagina inizio
  • 288 (literal)
Pagina fine
  • 289 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 71 (literal)
Rivista
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Annesi G; Tarantino P; Annesi F; De Marco EV; Civitelli D: Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy, Quattrone A: Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy - Institute of Neurology, University Magna Graecia, Catanzaro, Italy Aguglia U: Neurologic Unit, Azienda Ospedaliera Bianchi-Melacrino-Morelli, Reggio Calabria, Italy, Torroni A: Department of Genetics and Microbiology, University of Pavia, Italy, and dInstitute of Neurology, University Magna Graecia, Catanzaro, Italy (literal)
Titolo
  • SIL1 and SARA2 mutations in Marinesco-Sjögren and chylomicron retention diseases. (literal)
Abstract
  • Marinesco-Sjögren Syndrome (MSS) is an autosomal recessive disorder, characterized by cataracts, ataxia, and growth and mental retardation. Chronic myopathy is a common feature, and peripheral neuropathy has also been described. Recently, Lagier-Tourenne et al. (1) identified a candidate MSS locus on chromosome 5q31 by homozygosity mapping in two large consanguineous families with MSS. More recently, Anttonen et al. (2) confirmed the linkage of the MSS phenotype to 5q31 chromosome in a Finnish family, and identified a homozygous four-nucleotide duplication 506_509dupAAGA – in exon 6 of the SIL1 gene – in all investigated MSS patients. Senderek et al. (3), using homozygosity mapping in three small consanguineous families with typical MSS, narrowed a critical region on 5q31. In this region the authors identified nine distinct mutations in SIL1 gene in individuals from eight small families with MSS. (literal)
Prodotto di
Autore CNR

Incoming links:


Autore CNR di
Prodotto
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi
data.CNR.it